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Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy (Amylo)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01623245
Recruitment Status : Completed
First Posted : June 19, 2012
Last Update Posted : August 14, 2019
Information provided by (Responsible Party):
Thibaud Damy, French Cardiology Society

Brief Summary:
Cardiac amyloidosis are related to the accumulation of fibrillar proteins in the extracellular leading to disruption of the cardiac tissue architecture. Amyloidosis in transthyretin (TTR) are the most common hereditary amyloidosis but remain poorly studied at heart. This is serious and deadly. The prevalence of TTR amyloidosis is probably underestimated in hypertrophic cardiomyopathy (HCM) often of unknown etiology because of the lack of systematic implementation of myocardial biopsy because of their side effects.

Condition or disease
Cardiac Amyloidosis Amyloidosis in Transthyretin (TTR) Hypertrophic Cardiomyopathy (HCM)

Detailed Description:

A systematic screening of TTR mutations within the MHC would diagnose cardiac amyloidosis in TTR and improve the care of patients and their families.

The detection of this disease is important because this disease is fatal and a new treatment to prevent the accumulation of TTR is now available (Tafamidis). This drug has proved effective in stabilizing neurological damage.

Depending on the number of patient with cardiac amyloidosis in TTR detected, the prospect will begin a clinical trial to test the effectiveness of a new treatment to prevent the increase in mass of the left ventricle wall objectified resonance nuclear Magnetic.

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Study Type : Observational
Actual Enrollment : 294 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy
Actual Study Start Date : June 2012
Actual Primary Completion Date : December 2014
Actual Study Completion Date : December 2014

Hypertrophic Cardiomyopathy
In the population of Hypertrophic Cardiomyopathy patients, patients suffering from a cardiac amyloidosis

Primary Outcome Measures :
  1. Number of ATTRm mutations [ Time Frame: 1 day ]
    Number of ATTRm mutations detected in a large population of patients with HCM.

Secondary Outcome Measures :
  1. Genotype and clinical factors [ Time Frame: 1 day ]
    Identify clinical factors associated with biological and echocardiographic different HCM genotypes.

Biospecimen Retention:   Samples With DNA
10 mL of whole blood in EDTA tube

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The study population is that of patients with hypertrophic cardiomyopathy in France whose origin has not yet been determined.

Inclusion Criteria:

  • Patients with cardiomyopathy defined by an ultrasound thickness of the left ventricle >= 13 mm if familial form or >= 15 mm if sporadic form.
  • Patients with a signed consent authorizing the specific blood test for genetic sequencing to look for abnormal TTR gene

Exclusion Criteria:

  • Patients with a diagnosis of cardiomyopathy already determined or related already diagnosed.
  • Significant aortic stenosis (≤ 1 cm ²)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01623245

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Henri Mondor Hospital
Creteil, France, 94000
Sponsors and Collaborators
Thibaud Damy
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Principal Investigator: Thibaud DAMY Assistance Publique - Hôpitaux de Paris


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Responsible Party: Thibaud Damy, Assistant Professor, French Cardiology Society Identifier: NCT01623245     History of Changes
Other Study ID Numbers: 11714
First Posted: June 19, 2012    Key Record Dates
Last Update Posted: August 14, 2019
Last Verified: August 2019
Additional relevant MeSH terms:
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Cardiomyopathy, Hypertrophic
Heart Diseases
Cardiovascular Diseases
Proteostasis Deficiencies
Metabolic Diseases
Pathological Conditions, Anatomical
Aortic Stenosis, Subvalvular
Aortic Valve Stenosis
Heart Valve Diseases